Incidental Mutation 'R3159:Zfp667'
| ID |
258058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp667
|
| Ensembl Gene |
ENSMUSG00000054893 |
| Gene Name |
zinc finger protein 667 |
| Synonyms |
A830025F02Rik |
| MMRRC Submission |
040610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R3159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6289578-6310882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6308999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 556
(C556R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086327]
[ENSMUST00000108562]
[ENSMUST00000170776]
|
| AlphaFold |
Q2TL60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086327
AA Change: C556R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083507
Gene: ENSMUSG00000054893
AA Change: C556R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
4.77e-30 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108562
AA Change: C556R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104202
Gene: ENSMUSG00000054893
AA Change: C556R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
4.77e-30 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170776
AA Change: C556R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128658
Gene: ENSMUSG00000054893
AA Change: C556R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
4.77e-30 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
1.38e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
C |
3: 37,013,564 (GRCm39) |
V1931A |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cdk15 |
T |
C |
1: 59,340,440 (GRCm39) |
I313T |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,909 (GRCm39) |
V464A |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,155 (GRCm39) |
I178V |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,802,355 (GRCm39) |
V110I |
probably damaging |
Het |
| Hsd17b2 |
A |
C |
8: 118,485,491 (GRCm39) |
D318A |
probably damaging |
Het |
| Ighv8-6 |
A |
G |
12: 115,129,508 (GRCm39) |
S83P |
probably damaging |
Het |
| Isg20 |
C |
A |
7: 78,564,201 (GRCm39) |
A36E |
possibly damaging |
Het |
| Jade3 |
A |
G |
X: 20,345,783 (GRCm39) |
K54E |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,640,584 (GRCm39) |
Y505N |
probably damaging |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,506,855 (GRCm39) |
I274T |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,250 (GRCm39) |
T627I |
probably damaging |
Het |
| Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,105 (GRCm39) |
V33D |
possibly damaging |
Het |
| Rfx6 |
A |
T |
10: 51,602,816 (GRCm39) |
R778W |
probably damaging |
Het |
| Sav1 |
A |
T |
12: 70,031,326 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,635,611 (GRCm39) |
N328K |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,592,812 (GRCm39) |
Y1214H |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,105,760 (GRCm39) |
W332R |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trav4-4-dv10 |
A |
T |
14: 53,921,559 (GRCm39) |
K86* |
probably null |
Het |
| Zranb3 |
A |
G |
1: 127,900,686 (GRCm39) |
I713T |
probably benign |
Het |
|
| Other mutations in Zfp667 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Zfp667
|
APN |
7 |
6,308,396 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01325:Zfp667
|
APN |
7 |
6,293,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Zfp667
|
APN |
7 |
6,307,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01960:Zfp667
|
APN |
7 |
6,308,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03394:Zfp667
|
APN |
7 |
6,292,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
B5639:Zfp667
|
UTSW |
7 |
6,293,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Zfp667
|
UTSW |
7 |
6,307,844 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0845:Zfp667
|
UTSW |
7 |
6,309,091 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1768:Zfp667
|
UTSW |
7 |
6,308,066 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1953:Zfp667
|
UTSW |
7 |
6,308,087 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2023:Zfp667
|
UTSW |
7 |
6,308,416 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4080:Zfp667
|
UTSW |
7 |
6,308,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4476:Zfp667
|
UTSW |
7 |
6,307,598 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4584:Zfp667
|
UTSW |
7 |
6,293,624 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4783:Zfp667
|
UTSW |
7 |
6,308,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5037:Zfp667
|
UTSW |
7 |
6,308,949 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5300:Zfp667
|
UTSW |
7 |
6,307,635 (GRCm39) |
missense |
probably benign |
|
|
R5311:Zfp667
|
UTSW |
7 |
6,308,715 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5312:Zfp667
|
UTSW |
7 |
6,308,466 (GRCm39) |
missense |
probably benign |
|
|
R5340:Zfp667
|
UTSW |
7 |
6,308,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6262:Zfp667
|
UTSW |
7 |
6,307,973 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7386:Zfp667
|
UTSW |
7 |
6,308,949 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8383:Zfp667
|
UTSW |
7 |
6,308,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8919:Zfp667
|
UTSW |
7 |
6,308,256 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9099:Zfp667
|
UTSW |
7 |
6,308,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9422:Zfp667
|
UTSW |
7 |
6,308,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Zfp667
|
UTSW |
7 |
6,307,856 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTGTAGTCGCCTTTCATCC -3'
(R):5'- GATTTTGCAGATATAGCGACAGC -3'
Sequencing Primer
(F):5'- CGAATATCTCTTACGCGGCATAAG -3'
(R):5'- CAGCTTTAGGGTGTTTCCTCCG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation